Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. (Q50312488)

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scientific article published on 27 February 2011

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English	Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.	scientific article published on 27 February 2011

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scholarly article

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Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/21359847

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay (English)

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Rachel D Burnside

1

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12 May 2020

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Romela Pasion

2

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Fady M Mikhail

3

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Andrew J Carroll

4

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Nathaniel H Robin

5

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Erin L Youngs

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Inder K Gadi

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Elizabeth Keitges

8

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Vikram L Jaswaney

9

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Peter R Papenhausen

10

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Venkateswara R Potluri

11

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Hiba Risheg

12

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Brooke Rush

13

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Janice L Smith

14

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Stuart Schwartz

15

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James H Tepperberg

16

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Merlin G Butler

17

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12 May 2020

publication date

27 February 2011

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2 March 2018

http://europepmc.org/abstract/MED/21359847

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12 May 2020

130

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4

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517-528

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12 May 2020

https://scigraph.springernature.com/pub.10.1007/s00439-011-0970-4

0 references

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Autism spectrum disorder in the second year: stability and change in syndrome expression.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

The Screening and Diagnosis of Autistic Spectrum Disorders

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Phenotypic variability and genetic susceptibility to genomic disorders

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Functional characterization of NIPA2, a selective Mg2+ transporter

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Unusual features in children with inv dup(15) supernumerary marker: a study of genotype-phenotype correlation in Taiwan.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Population analysis of large copy number variants and hotspots of human genetic disease

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Genotype, haplotype and copy-number variation in worldwide human populations

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Clinical genetic evaluation of the child with mental retardation or developmental delays

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Exploratory subsetting of autism families based on savant skills improves evidence of genetic linkage to 15q11-q13

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Clinical genetic testing for patients with autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Large recurrent microdeletions associated with schizophrenia

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Germ-line DNA copy number variation frequencies in a large North American population

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0970-4

21 January 2018

Functional impact of global rare copy number variation in autism spectrum disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/21359847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

1 reference

https://pubmed.ncbi.nlm.nih.gov/21359847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/21359847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/21359847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

1 reference

https://pubmed.ncbi.nlm.nih.gov/21359847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical practice guideline: screening and diagnosing autism.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21359847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Copy-number variation in control population cohorts

1 reference

https://pubmed.ncbi.nlm.nih.gov/21359847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21359847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-011-0970-4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6814187&resulttype=core&format=json

12 May 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6814187&resulttype=core&format=json

12 May 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6814187&resulttype=core&format=json

12 May 2020

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